(used for variant description)
(last modified March 29, 2016)
This file was created to facilitate the description of sequence variants on transcript NM_004484.3 in the GPC3 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_009286.1, covering GPC3 transcript NM_004484.3.
(upstream sequence)
. g.5010
agccccgccctgccccg c.-181
. . . . . . g.5070
cgccgccaagcggttcccgccctcgcccagcgcccaggtagctgcgaggaaacttttgca c.-121
. . . . . . g.5130
gcggctgggtagcagcacgtctcttgctcctcagggccactgccaggcttgccgagtcct c.-61
. . . . . . g.5190
gggactgctctcgctccggctgccactctcccgcgctctcctagctccctgcgaagcagg c.-1
. . . . . . g.5250
ATGGCCGGGACCGTGCGCACCGCGTGCTTGGTGGTGGCGATGCTGCTCAGCTTGGACTTC c.60
M A G T V R T A C L V V A M L L S L D F p.20
. . . . . . g.5310
CCGGGACAGGCGCAGCCCCCGCCGCCGCCGCCGGACGCCACCTGTCACCAAGTCCGCTCC c.120
P G Q A Q P P P P P P D A T C H Q V R S p.40
. . . . . | 02 . g.37433
TTCTTCCAGAGACTGCAGCCCGGACTCAAGTGGGTGCCAGAAACTCCCGTGCCAG | GATCA c.180
F F Q R L Q P G L K W V P E T P V P G | S p.60
. . . . . . g.37493
GATTTGCAAGTATGTCTCCCTAAGGGCCCAACATGCTGCTCAAGAAAGATGGAAGAAAAA c.240
D L Q V C L P K G P T C C S R K M E E K p.80
. . . . . . g.37553
TACCAACTAACAGCACGATTGAACATGGAACAGCTGCTTCAGTCTGCAAGTATGGAGCTC c.300
Y Q L T A R L N M E Q L L Q S A S M E L p.100
. . . | 03. . . g.236486
AAGTTCTTAATTATTCAGAATGCTGCGGTTTTCCAAG | AGGCCTTTGAAATTGTTGTTCGC c.360
K F L I I Q N A A V F Q E | A F E I V V R p.120
. . . . . . g.236546
CATGCCAAGAACTACACCAATGCCATGTTCAAGAACAACTACCCAAGCCTGACTCCACAA c.420
H A K N Y T N A M F K N N Y P S L T P Q p.140
. . . . . . g.236606
GCTTTTGAGTTTGTGGGTGAATTTTTCACAGATGTGTCTCTCTACATCTTGGGTTCTGAC c.480
A F E F V G E F F T D V S L Y I L G S D p.160
. . . . . . g.236666
ATCAATGTAGATGACATGGTCAATGAATTGTTTGACAGCCTGTTTCCAGTCATCTATACC c.540
I N V D D M V N E L F D S L F P V I Y T p.180
. . . . . . g.236726
CAGCTAATGAACCCAGGCCTGCCTGATTCAGCCTTGGACATCAATGAGTGCCTCCGAGGA c.600
Q L M N P G L P D S A L D I N E C L R G p.200
. . . . . . g.236786
GCAAGACGTGACCTGAAAGTATTTGGGAATTTCCCCAAGCTTATTATGACCCAGGTTTCC c.660
A R R D L K V F G N F P K L I M T Q V S p.220
. . . . . . g.236846
AAGTCACTGCAAGTCACTAGGATCTTCCTTCAGGCTCTGAATCTTGGAATTGAAGTGATC c.720
K S L Q V T R I F L Q A L N L G I E V I p.240
. . . . . . g.236906
AACACAACTGATCACCTGAAGTTCAGTAAGGACTGTGGCCGAATGCTCACCAGAATGTGG c.780
N T T D H L K F S K D C G R M L T R M W p.260
. . . . . . g.236966
TACTGCTCTTACTGCCAGGGACTGATGATGGTTAAACCCTGTGGCGGTTACTGCAATGTG c.840
Y C S Y C Q G L M M V K P C G G Y C N V p.280
. . . . . . g.237026
GTCATGCAAGGCTGTATGGCAGGTGTGGTGGAGATTGACAAGTACTGGAGAGAATACATT c.900
V M Q G C M A G V V E I D K Y W R E Y I p.300
. . . . . . g.237086
CTGTCCCTTGAAGAACTTGTGAATGGCATGTACAGAATCTATGACATGGAGAACGTACTG c.960
L S L E E L V N G M Y R I Y D M E N V L p.320
. . . . . . g.237146
CTTGGTCTCTTTTCAACAATCCATGATTCTATCCAGTATGTCCAGAAGAATGCAGGAAAG c.1020
L G L F S T I H D S I Q Y V Q K N A G K p.340
. | 04 . . . . . g.290658
CTGACCACCACT | ATTGGCAAGTTATGTGCCCATTCTCAACAACGCCAATATAGATCTGCT c.1080
L T T T | I G K L C A H S Q Q R Q Y R S A p.360
. . . . . . g.290718
TATTATCCTGAAGATCTCTTTATTGACAAGAAAGTATTAAAAGTTGCTCATGTAGAACAT c.1140
Y Y P E D L F I D K K V L K V A H V E H p.380
. . | 05 . . . . g.298178
GAAGAAACCTTATCCAGCCGAAGAAG | GGAACTAATTCAGAAGTTGAAGTCTTTCATCAGC c.1200
E E T L S S R R R | E L I Q K L K S F I S p.400
. . . . . . g.298238
TTCTATAGTGCTTTGCCTGGCTACATCTGCAGCCATAGCCCTGTGGCGGAAAACGACACC c.1260
F Y S A L P G Y I C S H S P V A E N D T p.420
. . . | 06 . . . g.328816
CTTTGCTGGAATGGACAAGAACTCGTGGAGAG | ATACAGCCAAAAGGCAGCAAGGAATGGA c.1320
L C W N G Q E L V E R | Y S Q K A A R N G p.440
. . . . . . g.328876
ATGAAAAACCAGTTCAATCTCCATGAGCTGAAAATGAAGGGCCCTGAGCCAGTGGTCAGT c.1380
M K N Q F N L H E L K M K G P E P V V S p.460
. . . | 07 . . . g.394066
CAAATTATTGACAAACTGAAGCACATTAACCAG | CTCCTGAGAACCATGTCTATGCCCAAA c.1440
Q I I D K L K H I N Q | L L R T M S M P K p.480
. . . . . . g.394126
GGTAGAGTTCTGGATAAAAACCTGGATGAGGAAGGGTTTGAAAGTGGAGACTGCGGTGAT c.1500
G R V L D K N L D E E G F E S G D C G D p.500
. . . . . . g.394186
GATGAAGATGAGTGCATTGGAGGCTCTGGTGATGGAATGATAAAAGTGAAGAATCAGCTC c.1560
D E D E C I G G S G D G M I K V K N Q L p.520
. | 08 . . . . . g.454392
CGCTTCCTTGCAG | AACTGGCCTATGATCTGGATGTGGATGATGCGCCTGGAAACAGTCAG c.1620
R F L A E | L A Y D L D V D D A P G N S Q p.540
. . . . . . g.454452
CAGGCAACTCCGAAGGACAACGAGATAAGCACCTTTCACAACCTCGGGAACGTTCATTCC c.1680
Q A T P K D N E I S T F H N L G N V H S p.560
. . . . . . g.454512
CCGCTGAAGCTTCTCACCAGCATGGCCATCTCGGTGGTGTGCTTCTTCTTCCTGGTGCAC c.1740
P L K L L T S M A I S V V C F F F L V H p.580
g.454515
TGA c.1743
X p.580
. . . . . . g.454575
ctgcctggtgcccagcacatgtgctgccctacagcaccctgtggtcttcctcgataaagg c.*60
. . . . . . g.454635
gaaccactttcttatttttttctatttttttttttttgttatcctgtatacctcctccag c.*120
. . . . . . g.454695
ccatgaagtagaggactaaccatgtgttatgttttcgaaaatcaaatggtatcttttgga c.*180
. . . . . . g.454755
ggaagatacattttagtggtagcatatagattgtccttttgcaaagaaagaaaaaaaacc c.*240
. . . . . . g.454815
atcaagttgtgccaaattattctcctatgtttggctgctagaacatggttaccatgtctt c.*300
. . . . . . g.454875
tctctctcactccctccctttctatcgttctctctttgcatggatttctttgaaaaaaaa c.*360
. g.454894
taaattgctcaaataaaaa c.*379
(downstream sequence)
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